Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants

Clinical Genetics

Volumn 93, Issue 2, 2018, Pages 350-355

  Skakic, A ^a   Djordjevic, M ^b,c   Sarajlija, A ^b,c   Klaassen, K ^a   Tosic, N ^a   Kecman, B ^b   Ugrin, M ^a   Spasovski, V ^a   Pavlovic, S ^a   Stojiljkovic, M ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b Institute for Mother and Child Health Care of Republic Serbia Dr Vukan Cupic   (Serbia)

^c UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

clinical exome sequencing; G6PC; glycogen storage disease; incidence; mutations; SLC37A4 (G6PT)

Indexed keywords

GENOMIC DNA;

AMINO ACID SUBSTITUTION; ARTICLE; BACTERIAL INFECTION; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; EPIDEMIOLOGICAL DATA; EXON; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1B; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; INCIDENCE; INFLAMMATORY BOWEL DISEASE; MISSENSE MUTATION; NEUTROPENIA; NEXT GENERATION SEQUENCING; POPULATION; PRIORITY JOURNAL; RECURRENT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SERBIAN (CITIZEN); SLC37A4 GENE; SPLICING DEFECT;

EID: 85041031551     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13093     Document Type: Article

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